Results 41 to 50 of about 3,205 (146)

Clinical utility of nitisinone for the treatment of hereditary tyrosinemia type-1 (HT-1)

The Application of Clinical Genetics, 2017
Anibh Martin Das Department of Pediatrics, Hannover Medical School, Hannover, Germany Abstract: Medical therapy for hereditary hepatorenal tyrosinemia (hereditary tyrosinemia type 1, HT-1) with nitisinone was discovered incidentally, and is a by-product ...
Anibh M Das
exaly   +2 more sources

Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients. [PDF]

Orphanet J Rare Dis, 2019
Background Treatment with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) and dietary phenylalanine and tyrosine restriction improves physical health and life expectancy in Tyrosinemia type 1 (TT1).
van Vliet K, van Ginkel WG, Jahja R, Daly A, MacDonald A, De Laet C, Vara R, Rahman Y, Cassiman D, Eyskens F, Timmer C, Mumford N, Bierau J, van Hasselt PM, Gissen P, Goyens PJ, McKiernan PJ, Wilcox G, Morris AAM, Jameson EA, Huijbregts SCJ, van Spronsen FJ.   +21 more
europepmc   +2 more sources

Hereditary tyrosinemia type 1 in an infant with multiple congenital defects

Лечащий Врач, 2023
Hereditary tyrosinemia type 1 or hepatorenal tyrosinemia is a severe orphan autosomal-recessive disorder of tyrosine metabolism caused by a deficiency of the enzyme fumarylacetoacetate hydrolase (FAH).
H. A. Sarkisyan, S. V. Cherkasova, A. A. Fadeeva, A. S. Yarushnikova, Yu. S. Piliuzina, A.  B. Smolyannikova, E. I. Shabelnikova, L. M.  Makarova, M. A. Ovsyannikova, L. A. Levchenko, T. G. Demyanova   +10 more
doaj   +1 more source

mRNA-based therapy proves superior to the standard of care for treating hereditary tyrosinemia 1 in a mouse model

Molecular Therapy: Methods & Clinical Development, 2022
Hereditary tyrosinemia type 1 is an inborn error of amino acid metabolism characterized by deficiency of fumarylacetoacetate hydrolase (FAH). Only limited treatment options (e.g., oral nitisinone) are available.
Maximiliano L. Cacicedo, Christine Weinl-Tenbruck, Daniel Frank, Sebastian Wirsching, Beate K. Straub, Jana Hauke, Jürgen G. Okun, Nigel Horscroft, Julia B. Hennermann, Fred Zepp, Frédéric Chevessier-Tünnesen, Stephan Gehring   +11 more
doaj   +1 more source

The mutation spectrum and ethnic distribution of non-hepatorenal tyrosinemia (types II, III)

Orphanet Journal of Rare Diseases, 2022
Background Different types of non-hepatorenal tyrosinemia are among the rare forms of tyrosinemia. Tyrosinemia type II and III are autosomal recessive disorders caused by pathogenic variants in the tyrosine aminotransferase (TAT), and 4-hydroxyphenyl ...
Zahra Beyzaei, Sara Nabavizadeh, Sara Karimzadeh, Bita Geramizadeh   +3 more
doaj   +1 more source

First Macedonian child with tyrosinemia type 1 successfully treated with nitisinone and report of a novel mutation in the FAH gene [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2017
Introduction. Hereditary tyrosinemia type 1 (HT1) is a severe hereditary metabolic disorder of tyrosine metabolism due to fumarylacetoacetate hydrolase (FAH) deficiency and accumulation of toxic products in tissues. More than 80 mutations in the FAH gene
Kostovski Aco, Zdraveska Nikolina, Tesarova Marketa, Zeman Jiři   +3 more
doaj   +1 more source

Infants with Tyrosinemia Type 1: Should phenylalanine be supplemented? [PDF]

, 2014
Tyrosinemia type 1 (HT1) is an inborn error of tyrosine catabolism caused by fumarylacetoacetase deficiency. Biochemically, this results in accumulation of toxic metabolites including succinylacetone. Clinically, HT1 is characterized by severe liver, kidney, and neurological problems.
van Vliet, Danique, van Dam, Esther, van Rijn, Margreet, Derks, Terry G J, Venema-Liefaard, Gineke, Hitzert, Marrit M, Lunsing, Roelineke J, Heiner-Fokkema, M. Rebecca, van Spronsen, Francjan J   +8 more
openaire   +3 more sources

A case report of two siblings with hypertyrosinemia type 1 presenting with hepatic disease with different onset time and severity

Molecular Genetics and Metabolism Reports, 2022
Hereditary tyrosinemia type 1 (HT1) is an autosomal recessive disorder caused by a defect in fumarylacetoacetate hydroxylase (FAH) encoded by the FAH gene.
Kazuo Kawabata, Jun Kido, Takanobu Yoshida, Shirou Matsumoto, Kimitoshi Nakamura   +4 more
doaj   +1 more source

Tyrosinemia Type 1 – A case report

Bangladesh Journal of Child Health, 2020
Tyrosinemia Type 1 is a rare inherited metabolic disorder attributable to a deficiency of enzyme fumaryl acetoacetate hydrolase. It has an autosomal recessive pattern of inheritance. It often presents with liver disease or liver failure with predominant bleeding tendencies, Fanconi syndrome and or rickets with neurological crisis. Diagnosis is based on
Fahmida Begum, Mohammad Shariful Hasan, Rafia Rashid, Subir Ananda Biswas, ASM Bazlul Karim, Wahiduzzaman Mazumder, Fahmida Islam   +6 more
openaire   +2 more sources

Hereditary Tyrosinemia Type 1—A Rare Disease with Typical Radiological Features: Case Report and Review of Literature

Journal of Gastrointestinal and Abdominal Radiology, 2020
Hereditary tyrosinemia type 1 is one of the many inborn errors of metabolism associated with tyrosine catabolism. It is a rare disease with its incidence or prevalence in India unknown.
Somesh Singh, Rana Vishwadeep Mall, Pragya Chaturvedi, Rajnikant R. Yadav   +3 more
doaj   +1 more source